Creation of an Undiagnosed Diseases Research and Collaboration Network

June 11, 2012, by Heather Long

My son, Cal was five years decayed when he lost his life to some undiagnosed disease.  He spent the greater number of his short life in and out of hospitals, subsistence seen by numerous specialists and subjected to countless distinguishing tests, arduous therapies and invasive sanatory treatments. Despite efforts by his physicians, not any could diagnose the disease that slowly and painfully killed him.

No Network for Physicians Handling Undiagnosed Cases.
In my son’s suit, the major obstacle to our obtaining a diagnosis instead of him was the inability of our physicians to diffuse Cal’s case within the healing and disease research networks to attain to other physicians handling cases with homogeneous signs and symptoms.  Without this network (aside from the traditional word-of-mouth method) Cal’s physicians could not collaborate through colleagues to find a diagnosis, and arrange Cal with appropriate treatments and an opportunity for a cure.  Cal’s action is not unique.  Every day undiagnosed patients and their physicians struggle by the inability to network quickly and efficiently in instruction to find a diagnosis and improve their care and outcomes. There are professional doctor networks and patient networks in duration, but none are dedicated to solving undiagnosed cases.

No Reporting System according to Undiagnosed Cases.
After Cal died, I asked several of Cal’s physicians if in that place was a patient registry or magazine of information on undiagnosed cases such that I could donate Cal’s healing information in the hopes of helping someone besides.  The answer was “no”.  In brotherhood for a patient’s case to subsist recorded in an existing patient registry, the persevering has to have been diagnosed.  Therefore, until such time as a patient receives a diagnosis, what one. can ultimately take years, invaluable notice about their case is not being recorded or shared, in this wise leaving thousands of undiagnosed patients unaccounted as far as concerns and truly orphaned. Consequently, the ay magnitude of the undiagnosed population is dark and there is no central repertory of epidemiological data elucidating the types and superiority of cases of undiagnosed disease in the U.S.  Statistics forward the number of undiagnosed cases are spread here and there and hard to locate. As every example, according to the National Human Genome Research Institute, betwixt 30 to 40 percent of children through special needs do not have some exact diagnosis.  Further, my son’s genetics counselor told me that they are simply able to diagnosed 50 percent of the children they know and they purport to see from beginning to end 3,000 families a year, entertain more grant support from the NIH than a single one other genetics department in the U.S, and bear faculty in the Department of Molecular and Human Genetics at Baylor College of Medicine.

Limited Resources on this account that Patients with Undiagnosed Illnesses
Currently, in that place is only one program specializing in the inquiry of undiagnosed cases.  Despite the performance that there is no viable according amongst those in the medical community as to the breadth of the undiagnosed people, a clue to their numbers lies in the reality that since its inception four years ago, the NIH’s Undiagnosed Diseases Program has current over 5,000 inquiries.  At human being point last year the UDP had to discontinue accepting new patients for several months becoming to the overwhelming number of cases in its backlog.  Of the gross number of cases that are submitted with respect to acceptance into the UDP, a remarkably limited number are actually accepted.  It takes the UDP not fa from 8 – 12 weeks to evaluate each application and the waiting list instead of admission is 2 – 6 months.  Recently, Dr. Gahl, Director of the NIH Undiagnosed Diseases Program did each interview for 60 minutes in May for the period of which he stated that the diagnosis defame for the UDP is in the 10 percent stroll having successfully diagnosed 45 cases out of the 450 accepted. Yet, according to Dr. Gahl, millions of Americans be punished from a rare disease, which he defines because affecting between one and 50 clan in the world.  This begs the judicial of how many of these millions by a rare disease are undiagnosed and the physicians who are handling their cases are left out of an alternative source of help.

The Creation of a Research and Collaboration Network:  A Secure, Professional Networking Tool on account of Physicians with Rare Disease Cross-Referencing
After Cal, died I refocused my animation on addressing these issues and doing the kind of I could to change the wont undiagnosed cases are handled in the U.S. Based with my own research I found that there are 1) patient registries dedicated to specific diseases, 2) professional networks for physicians that arrange for generalized collaboration on patient care and 3) convivial networks for patients that provide a court of justice for patients to connect with other patients through the same/similar diagnoses.  However, there are no patient registries or networks dedicated to solving undiagnosed cases. So, I came up with the concept of the CAL Network.

Patient registries be in actual possession of been very successful for many other diseases; unless the CAL Network will be so much as more powerful than traditional patient registries as it will facilitate actual networking capabilities that traditive patient registries do not provide.  The CAL Network desire help undiagnosed patients and their physicians through . providing a professional, secure, network as being doctors and scientists to register undiagnosed particular occurrence(s) and search for and ascertain to be the same cases with similar presentations, signs and symptoms, thereby enabling them to call upon the expertise and skills of their colleagues handling those like cases in order collaborate in positive-time on finding a diagnosis and improve the care and outcomes of their patients.   It is this new networking element, allowing real-time collaboration amongst physicians and researchers that be disposed bring diagnosis and treatments for thousands of undiagnosed Americans.

Furthermore, The CAL Network demise help the rare disease community through . allowing physicians to compare their undiagnosed action against attributes of identified rare diseases towards potential matches. There are more than 7,000 sparse disorders that together affect over 25 the masses Americans and their families.  Some of these diseases are in the way that rare that the majority of physicians take not heard of them, making diagnosis extremely perplexing.  It can take 3-5 years on this account that patients with rare diseases to contain diagnosis and in some cases they are at no time diagnosed. There are databases available to save obtain information on rare diseases, only they are limited to disease-specified inquiries rendering them of no account to those who don’t discern what disease they are looking as far as concerns.

In short my vision for the CAL Network is with regard to it to be designed and built out in in the same state a way as to combine elements from the representative patient registry with those of medical man networking sites into one product that exercise volition:

Provide physicians with a means to seek for similar cases of undiagnosed diseases

Facilitate actual-time collaboration amongst physicians that may subsist handling similar undiagnosed cases in peace to find diagnosis and improve submissive care and outcomes

Enable physicians to management cross-disease research whereby cases of undiagnosed diseases be able to be cross-referenced against attributes of stale diseases and rare diseases to aid in the rendering of a diagnosis; elucidate commonalities; identify atypical presentations, rare subgroups, uniform findings, and identify potential treatments

Better specify the peculiarities of the types and prevalence of cases of undiagnosed diseases in the United States

Make premises available (age, race, ethnicity, gender, sex, household medical history, genetic, environmental, occupational factors, etc.) to succor determine what factors may contribute to undiagnosed diseases

Provide requirement data to increase understanding of the extent of time to diagnoses, and to identify barriers to diagnoses (and reasons in opposition to misdiagnoses)

Since Cal’s death, his specify has become an Acronym for Considering All Lives and I object of trust that with the creation of the CAL Network, physicians and researchers direct be able to come to actually understand the magnitude of the undiagnosed population and begin to give the lives of these individuals the identical amount of consideration as those who possess a diagnosis.
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Tags: CAL Network, diagnosis, number, percent, physicians, son, UDP, undiagnosed cases

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